PMC:4157143 / 28576-29638 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4157143","sourcedb":"PMC","sourceid":"4157143","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4157143","text":"By comparing cis-sQTLs between the family and the population, we also ranked genes with larger relative effect sizes (measured as R2) in the family than in the population (n = 726, \u003e95% population, n = 5,622 genes; FDR = 39%). Differences in isoform-quantification pipelines probably overestimate the excess number of large-effect sQTLs because there is also more noise in isoform quantification in the population. However, as for large-effect eQTLs, we also observed enrichment of rare and potentially functional variants for large-effect sQTL genes in the family (Figure 4A). Furthermore, by stratifying on allele frequency, distance to splice sites, and evolutionary-constraint thresholds, we found that large-effect sQTLs in the family were much better predicted by rare variants than by common variants, especially for conserved regions near splice sites (Figure 4B). In addition to observing large effect sizes, we also found that sQTLs could exhibit very high heritabilities, nearly as high as those for Mendelian traits (examples in Figures S26 and S27).","tracks":[]}